A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv594693



Internal ID16035416
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:76112437..76179915hg38UCSC Ensembl
Innerchr4:77033590..77101068hg19UCSC Ensembl
Innerchr4:77252614..77320092hg18UCSC Ensembl
Cytoband4q21.1
Allele length
AssemblyAllele length
hg3867479
hg1967479
hg1867479
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9136n54
Supporting Variantsnssv1002369
Samples
Known GenesART3, NUP54, SCARB2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv594693
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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